Miguel Fernández‐Burriel

Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene

Laura Alías, Sara Bernal, Pablo Fuentes‐Prior et al. · Human Genetics · 2008 · 169 citations

Life Sciences, Genetics, Molecular Genetics +13

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

Irene Perea‐Romero, Gema Gordo, Ionut-Florin Iancu et al. · Scientific Reports · 2021 · 160 citations · Full text

Life Sciences, Genetics, Ophthalmology +16

High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative

Carla Fuster‐García, Gema García‐García, Teresa Jaijo et al. · Scientific Reports · 2018 · 46 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Detection of the fragile X syndrome protein for the evaluation of FMR1 intermediate alleles

Sergi Castellvı́-Bel, Miguel Fernández‐Burriel, M. Rifé et al. · Human Genetics · 2000 · 45 citations

Life Sciences, Genetics, Molecular Genetics +11

MLPA as first screening method for the detection of microduplications and microdeletions in patients with X-linked mental retardation

Irene Madrigal, Laia Rodríguez‐Revenga, Célia Bádenas et al. · Genetics in Medicine · 2007 · 35 citations · Full text

Medicine, Molecular Genetics, Early Detection +6